Baalmann N - Search Results

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Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing.

Baalmann N, Spielmann M, Gillessen-Kaesbach G, Hanker B, Schmidt J, Lill CM, Hellenbroich Y, Greiten B, Lohmann K, Trinh J, Hüning I. Baalmann N, et al. Eur J Med Genet. 2023 Jul;66(7):104774. doi: 10.1016/j.ejmg.2023.104774. Epub 2023 Apr 28. Eur J Med Genet. 2023. PMID: 37120078

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.

Trinh J, Hüning I, Yüksel Z, Baalmann N, Imhoff S, Klein C, Rolfs A, Gillessen-Kaesbach G, Lohmann K. Trinh J, et al. Among authors: baalmann n. J Hum Genet. 2018 Sep;63(9):997-1001. doi: 10.1038/s10038-018-0469-0. Epub 2018 Jun 13. J Hum Genet. 2018. PMID: 29899504

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